R852H (p.Arg852His) variant of SLC12A3 (P55017)
R852H (p.Arg852His) in SLC12A3 (P55017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Familial hypokalemia-hypomagnesemia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
R852H (p.Arg852His) variant details
- p.Arg852His
- rs751929135
- ClinGen CA8069967
- ClinVar RCV001956268
- ClinVar RCV003230719
- Pathogenic/Likely pathogenic
- Familial hypokalemia-hypomagnesemia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- CADD 24.10
- PolyPhen-2 0.62
- SIFT 0.44
- ClinVar: Pathogenic/Likely pathogenic (Familial hypokalemia-hypomagnesemia; not provided)
- EBI: Pathogenic (in GTLMNS)
- UniProt: Pathogenic (in GTLMNS)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Two novel genotypes of the thiazide-sensitive Na-Cl cotransporter (SLC12A3) gene in patients with Gitelman's syndrome. (PMID 17873326)
- Cited in: Clinical utility gene card for: Gitelman syndrome. (PMID 21343949)